Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency. [electronic resource]
- Gastroenterology May 2013
- 945-955.e6; quiz e14-5 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural
1528-0012
10.1053/j.gastro.2013.02.004 doi
Acyltransferases--genetics Avitaminosis--genetics Bile Acids and Salts--metabolism Biopsy Child Child, Preschool Coenzyme A Ligases--genetics DNA--genetics DNA Mutational Analysis Fatty Acid Transport Proteins--genetics Female Genetic Predisposition to Disease Homozygote Humans Infant Liver--pathology Male Mass Spectrometry Mutation, Missense